|
Background
The Alpha One Foundation was founded in 2001 and is based in the RCSI Education and Research Centre at Beaumont Hospital. We are dedicated to increasing diagnosis, raising awareness and improving the treatment of Alpha-1 Antitrypsin Deficiency (Alpha-1).
Alpha-1 is a common inherited disease but is massively under-diagnosed, and affects over 250,000 carriers on the island of Ireland, with 3,000 of these having severe deficiency (The Prevalence of Alpha-1 Antitrypsin Deficiency in Ireland, Respiratory Research, 2011 July 13;12:91). If undetected, Alpha-1 leads to severe lung and liver disease. Most patients present in their 40s and 50s with early-onset emphysema or chronic obstructive pulmonary disease (COPD) but this presentation can occur later in life. A sub-group presents with liver disease in the first year of life and may require liver transplantation. Early diagnosis is vital for health and welfare of our patients, and this is our main objective. For example, the average Alpha-1 patient in the US sees 5 doctors over 7 years before a correct diagnosis. The Alpha One Foundation has affiliations with the Irish Donor Network, the Irish Asthma Society, the Medical Research Charities Group, the Irish Platform for Patient Organisations Science and Industry (IPPOSI), and several other organisations dedicated to improving lung health. We support our active Alpha-1 patient group which promotes understanding and awareness of the condition among patients and their families, as well as providing much needed peer-to-peer support for newly-diagnosed Alphas.
Our main aims include: - Increasing awareness of Alpha-1 Antitrypsin Deficiency (Alpha-1), amongst both the medical profession and the general public.
- Promoting early diagnosis of Alpha-1 individuals.
- Providing comprehensive patient support.
- Access to clinical trials for emerging therapies.
National Screening Programme:
In 2004 we began a national screening programme funded by the Department of Health and Children to reduce the under diagnosis and misdiagnosis of Alpha-1. This targeted detection programme is the only national screening programme for Alpha-1 in the world. We follow World Health Organisation (WHO), American Thoracic Society (ATS), and European Respiratory Society (ERS) guidelines which recommend testing of:
- All chronic obstructive pulmonary disease (COPD) patients
- All non-responsive asthmatics
- All cryptogenic liver disease patients
- All first-degree relatives of known Alphas
- Individuals with reduced serum levels of AAT
- Panniculitis patients
As Alpha-1 is a hereditary disease we strongly recommend that all first degree family members of individuals with Alpha-1 should also be tested.
Location:
We are based in the RCSI Education & Research Centre at Beaumont Hospital. There is a dedicated clinic for Alpha-1 patients under the care of Professor N. G. McElvaney in Beaumont Hospital every Wednesday afternoon. There are currently three staff members of the Alpha One Foundation who utilise the latest diagnostic methods in our screening programme, perform research in the area of Alpha-1, coordinate clinical trials testing new therapies, and strive to increase awareness of the condition throughout Ireland. Staff members liaise with the Alpha-1 clinic team, as well as patients, GPs, hospital laboratory staff, and respiratory and liver consultants throughout Ireland.
Staff of the Alpha One Foundation:
Kitty O'Connor, CEO Alpha One Foundation
Dr. Tomás Carroll, Chief Scientist
Laura Fee, Clinical Research Associate
Please contact us with any queries on 01-8093871 or email us on
This e-mail address is being protected from spambots. You need JavaScript enabled to view it
. |